Retinitis Pigmentosa

This publication has 124 references indexed in Scilit:

• Analysis of the RPGRGene in 11 Pedigrees with the Retinitis Pigmentosa Type 3 Genotype: Paucity of Mutations in the Coding Region but Splice Defects in Two Families
  American Journal of Human Genetics, 1997
• Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285
  Human Genetics, 1996
• Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness
  Nature Genetics, 1996
• Mutation analysis of the ROM1 gene in retinitis pigmentosa
  Human Molecular Genetics, 1995
• Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
  Human Molecular Genetics, 1994
• Assignment of a Gene for Autosomal Recessive Retinitis Pigmentosa (RP12) to Chromosome 1q31-q32.1 in an Inbred and Genetically Heterogeneous Disease Population
  Genomics, 1994
• Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
  Human Molecular Genetics, 1994
• Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
  Nature, 1994
• Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7
  Genomics, 1992
• Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
  Nature, 1984